A 5-month-old child presented to the dermatology OPD with dryness along with white, fine scales on most pas of the body with sparing of face. The child was born at 39 weeks gestation spontaneous vaginal delivery outside the hospital. On examination, large scales which were attached at the centre with turned up edges were observed at the extensor surface of lower limbs along characteristic finding on palms and deltoid region. Which of the following genes is most likely defective in the above condition: –

Correct Answer: Filaggrin
Description: This is a case of Ichthyosis vulgaris. Autosomal dominant. Gene involved is filaggrin. Fine, white scale with dryness of skin. Associated with: - Hyperlinear palms (Image 1) Keratosis pilaris (Image 2) Atopic diathesis Treatment is hydration and immediate lubrication of skin.
Category: Unknown
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